ClinVar for Gene (Select 2296) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3371313	NM_001453.3(FOXC1):c.910C>T (p.His304Tyr)	FOXC1 (H304Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3362572	NM_001453.3(FOXC1):c.240_284del (p.Tyr81_Pro95del)	FOXC1, LOC129995601	Deletion	Axenfeld-Rieger syndrome type 3	GLikely pathogenic
Select item 3360489	NM_001453.3(FOXC1):c.1048C>T (p.Leu350Phe)	FOXC1 (L350F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360488	NM_001453.3(FOXC1):c.883C>T (p.Pro295Ser)	FOXC1 (P295S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3356749	NM_001453.3(FOXC1):c.702C>G (p.Pro234=)	FOXC1	Single nucleotide variant (synonymous variant)	FOXC1-related disorder	GLikely benign
Select item 3351918	NM_001453.3(FOXC1):c.1355G>A (p.Gly452Asp)	FOXC1 (G452D)	Single nucleotide variant (missense variant)	FOXC1-related disorder	GUncertain significance
Select item 3347889	NM_001453.3(FOXC1):c.284C>G (p.Pro95Arg)	FOXC1, LOC129995601 (P95R)	Single nucleotide variant (missense variant)	FOXC1-related disorder	GUncertain significance
Select item 3345452	NM_001453.3(FOXC1):c.1112C>T (p.Ala371Val)	FOXC1 (A371V)	Single nucleotide variant (missense variant)	FOXC1-related disorder	GUncertain significance
Select item 3344356	NM_001453.3(FOXC1):c.379C>A (p.Arg127Ser)	FOXC1 (R127S)	Single nucleotide variant (missense variant)	FOXC1-related disorder	GLikely pathogenic
Select item 3343897	NM_001453.3(FOXC1):c.338C>T (p.Pro113Leu)	FOXC1 (P113L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3340293	NM_001453.3(FOXC1):c.446G>A (p.Gly149Asp)	FOXC1 (G149D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3336886	NM_001453.3(FOXC1):c.1361G>C (p.Gly454Ala)	FOXC1 (G454A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3279511	NM_001453.3(FOXC1):c.35C>T (p.Ser12Phe)	FOXC1 (S12F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3279510	NM_001453.3(FOXC1):c.173G>C (p.Gly58Ala)	FOXC1 (G58A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3279509	NM_001453.3(FOXC1):c.209A>C (p.Gln70Pro)	FOXC1 (Q70P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3279508	NM_001453.3(FOXC1):c.617C>T (p.Pro206Leu)	FOXC1 (P206L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3279507	NM_001453.3(FOXC1):c.330C>G (p.Asp110Glu)	FOXC1 (D110E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3246020	NC_000006.11:g.(?_1610661)_(1611805_?)del	FOXC1	Deletion	Axenfeld-Rieger syndrome type 3	GPathogenic
Select item 3246019	NC_000006.11:g.(?_1606319)_(1611558_?)del	FOXC1	Deletion	Axenfeld-Rieger syndrome type 3	GPathogenic
Select item 3236698	NM_001453.3(FOXC1):c.235C>A (p.Pro79Thr)	FOXC1, LOC129995601 (P79T)	Single nucleotide variant (missense variant)	Anterior segment dysgenesis 3	GPathogenic
Select item 3236695	NM_001453.3(FOXC1):c.1009_1012dup (p.Ala338fs)	FOXC1 (A338fs)	Duplication (frameshift variant)	Axenfeld-Rieger syndrome type 3	GPathogenic
Select item 3236692	NM_001453.3(FOXC1):c.-296_*345del (p.Met1fs)	FOXC1, LOC129995600 +1 more (M1fs)	Deletion (frameshift variant +1 more)	Axenfeld-Rieger syndrome type 3	GPathogenic
Select item 3096273	NM_001453.3(FOXC1):c.94G>A (p.Ala32Thr)	FOXC1 (A32T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3096272	NM_001453.3(FOXC1):c.942G>A (p.Met314Ile)	FOXC1 (M314I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3096270	NM_001453.3(FOXC1):c.532G>A (p.Asp178Asn)	FOXC1 (D178N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3096269	NM_001453.3(FOXC1):c.125C>T (p.Ala42Val)	FOXC1 (A42V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3096268	NM_001453.3(FOXC1):c.1188C>A (p.Asn396Lys)	FOXC1 (N396K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3062932	GRCh37/hg19 6p25.3-25.1(chr6:156974-4338899)x1	BPHL, C6orf201 +25 more	Copy number loss	not specified	GPathogenic
Select item 3062928	GRCh37/hg19 6p25.3-25.2(chr6:156974-3175378)x3	BPHL, DUSP22 +16 more	Copy number gain	not specified	GPathogenic
Select item 3062921	GRCh37/hg19 6p25.3-25.2(chr6:1479303-2693757)x3	FOXC1, GMDS +2 more	Copy number gain	not specified	GUncertain significance
Select item 3062906	GRCh37/hg19 6p25.3(chr6:1562445-1646030)x1	FOXC1, GMDS	Copy number loss	not specified	GPathogenic
Select item 3062879	GRCh37/hg19 6p25.3(chr6:1527438-2021057)x3	FOXC1, GMDS	Copy number gain	not specified	GUncertain significance
Select item 3062878	GRCh37/hg19 6p25.3(chr6:1593074-1660677)x3	FOXC1, GMDS	Copy number gain	not specified	GUncertain significance
Select item 3044944	NM_001453.3(FOXC1):c.861T>C (p.Gly287=)	FOXC1	Single nucleotide variant (synonymous variant)	FOXC1-related disorder	GLikely benign
Select item 3043884	NM_001453.3(FOXC1):c.1599C>T (p.Phe533=)	FOXC1	Single nucleotide variant (synonymous variant)	FOXC1-related disorder	GLikely benign
Select item 3042308	NM_001453.3(FOXC1):c.1142_1156del (p.Ala381_Gly385del)	FOXC1	Deletion	FOXC1-related disorder	GLikely benign
Select item 3042031	NM_001453.3(FOXC1):c.892_898del (p.Ser298fs)	FOXC1 (S298fs)	Deletion (frameshift variant)	FOXC1-related disorder	GLikely pathogenic
Select item 3031842	NM_001453.3(FOXC1):c.-433C>G	FOXC1, LOC129995600	Single nucleotide variant (5 prime UTR variant)	FOXC1-related disorder	GLikely benign
Select item 3031777	NM_001453.3(FOXC1):c.1495G>A (p.Gly499Ser)	FOXC1 (G499S)	Single nucleotide variant (missense variant)	FOXC1-related disorder	GUncertain significance
Select item 3031218	NM_001453.3(FOXC1):c.-435C>G	FOXC1, LOC129995600	Single nucleotide variant (5 prime UTR variant)	FOXC1-related disorder	GLikely benign
Select item 3029215	NM_001453.3(FOXC1):c.-437C>G	FOXC1, LOC129995600	Single nucleotide variant (5 prime UTR variant)	FOXC1-related disorder	GLikely benign
Select item 3029141	NM_001453.3(FOXC1):c.1140C>G (p.Gly380=)	FOXC1	Single nucleotide variant (synonymous variant)	FOXC1-related disorder	GLikely benign
Select item 3025992	NM_001453.3(FOXC1):c.1095C>T (p.Cys365=)	FOXC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3021131	NM_001453.3(FOXC1):c.1228G>T (p.Gly410Cys)	FOXC1 (G410C)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3	GUncertain significance
Select item 3016742	NM_001453.3(FOXC1):c.868T>G (p.Ser290Ala)	FOXC1 (S290A)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3	GUncertain significance
Select item 3016523	NM_001453.3(FOXC1):c.1573G>A (p.Gly525Arg)	FOXC1 (G525R)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3	GUncertain significance
Select item 3013328	NM_001453.3(FOXC1):c.1022G>A (p.Arg341His)	FOXC1 (R341H)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3	GUncertain significance
Select item 3013009	NM_001453.3(FOXC1):c.768G>T (p.Lys256Asn)	FOXC1 (K256N)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3	GUncertain significance
Select item 3009097	NM_001453.3(FOXC1):c.246C>T (p.Ser82=)	FOXC1, LOC129995601	Single nucleotide variant (synonymous variant)	Axenfeld-Rieger syndrome type 3	GLikely benign
Select item 3004962	NM_001453.3(FOXC1):c.1390G>A (p.Ala464Thr)	FOXC1 (A464T)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3	GUncertain significance
Select item 3003613	NM_001453.3(FOXC1):c.818C>T (p.Pro273Leu)	FOXC1 (P273L)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3	GUncertain significance
Select item 3003410	NM_001453.3(FOXC1):c.1304C>G (p.Pro435Arg)	FOXC1 (P435R)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3 +1 more	GUncertain significance
Select item 2996143	NM_001453.3(FOXC1):c.159C>G (p.Ala53=)	FOXC1	Single nucleotide variant (synonymous variant)	Axenfeld-Rieger syndrome type 3	GLikely benign
Select item 2995216	NM_001453.3(FOXC1):c.1265C>T (p.Ser422Leu)	FOXC1 (S422L)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3	GUncertain significance
Select item 2994890	NM_001453.3(FOXC1):c.155A>G (p.His52Arg)	FOXC1 (H52R)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3	GUncertain significance
Select item 2993474	NM_001453.3(FOXC1):c.614C>T (p.Pro205Leu)	FOXC1 (P205L)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3	GUncertain significance
Select item 2993123	NM_001453.3(FOXC1):c.1040C>T (p.Pro347Leu)	FOXC1 (P347L)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3	GUncertain significance
Select item 2991907	NM_001453.3(FOXC1):c.587C>T (p.Pro196Leu)	FOXC1 (P196L)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3	GUncertain significance
Select item 2988207	NM_001453.3(FOXC1):c.1437C>T (p.Gly479=)	FOXC1	Single nucleotide variant (synonymous variant)	Axenfeld-Rieger syndrome type 3	GUncertain significance
Select item 2983621	NM_001453.3(FOXC1):c.49C>T (p.Pro17Ser)	FOXC1 (P17S)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3	GUncertain significance
Select item 2982643	NM_001453.3(FOXC1):c.447C>T (p.Gly149=)	FOXC1	Single nucleotide variant (synonymous variant)	Axenfeld-Rieger syndrome type 3	GUncertain significance
Select item 2965260	NM_001453.3(FOXC1):c.1380C>T (p.Gly460=)	FOXC1	Single nucleotide variant (synonymous variant)	Axenfeld-Rieger syndrome type 3	GLikely benign
Select item 2956461	NM_001453.3(FOXC1):c.548A>G (p.Lys183Arg)	FOXC1 (K183R)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3	GUncertain significance
Select item 2919321	NM_001453.3(FOXC1):c.1509C>T (p.Asn503=)	FOXC1	Single nucleotide variant (synonymous variant)	Axenfeld-Rieger syndrome type 3	GLikely benign
Select item 2913939	NM_001453.3(FOXC1):c.1253G>C (p.Gly418Ala)	FOXC1 (G418A)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3	GUncertain significance
Select item 2913025	NM_001453.3(FOXC1):c.1337_1339del (p.His446_Gly447delinsArg)	FOXC1	Deletion (inframe_indel)	Axenfeld-Rieger syndrome type 3	GUncertain significance
Select item 2898918	NM_001453.3(FOXC1):c.175G>A (p.Gly59Ser)	FOXC1 (G59S)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3	GUncertain significance
Select item 2892336	NM_001453.3(FOXC1):c.962C>T (p.Pro321Leu)	FOXC1 (P321L)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3	GUncertain significance
Select item 2886317	NM_001453.3(FOXC1):c.1300C>T (p.Pro434Ser)	FOXC1 (P434S)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3	GUncertain significance
Select item 2875978	NM_001453.3(FOXC1):c.1029G>A (p.Gly343=)	FOXC1	Single nucleotide variant (synonymous variant)	Axenfeld-Rieger syndrome type 3	GLikely benign
Select item 2860824	NM_001453.3(FOXC1):c.389_392del (p.Leu130fs)	FOXC1 (L130fs)	Deletion (frameshift variant)	Axenfeld-Rieger syndrome type 3	GPathogenic
Select item 2858932	NM_001453.3(FOXC1):c.311T>C (p.Ile104Thr)	FOXC1, LOC129995601 (I104T)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3	GUncertain significance
Select item 2853837	NM_001453.3(FOXC1):c.1149_1158dup (p.Ala387fs)	FOXC1 (A387fs)	Duplication (frameshift variant)	Axenfeld-Rieger syndrome type 3	GPathogenic
Select item 2852771	NM_001453.3(FOXC1):c.888G>T (p.Ala296=)	FOXC1	Single nucleotide variant (synonymous variant)	Axenfeld-Rieger syndrome type 3	GLikely benign
Select item 2852662	NM_001453.3(FOXC1):c.1326G>A (p.Ser442=)	FOXC1	Single nucleotide variant (synonymous variant)	Axenfeld-Rieger syndrome type 3	GLikely benign
Select item 2843637	NM_001453.3(FOXC1):c.487_488insGCATGTAGG (p.Glu163delinsGlyMetTer)	FOXC1	Insertion (nonsense)	Axenfeld-Rieger syndrome type 3	GPathogenic
Select item 2835447	NM_001453.3(FOXC1):c.1157dup (p.Ala387fs)	FOXC1 (A387fs)	Duplication (frameshift variant)	Axenfeld-Rieger syndrome type 3	GPathogenic
Select item 2832214	NM_001453.3(FOXC1):c.1345G>A (p.Gly449Ser)	FOXC1 (G449S)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3	GUncertain significance
Select item 2824091	NM_001453.3(FOXC1):c.440G>T (p.Gly147Val)	FOXC1 (G147V)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3	GUncertain significance
Select item 2822575	NM_001453.3(FOXC1):c.129C>T (p.Pro43=)	FOXC1	Single nucleotide variant (synonymous variant)	Axenfeld-Rieger syndrome type 3	GUncertain significance
Select item 2808326	NM_001453.3(FOXC1):c.281C>T (p.Ala94Val)	FOXC1, LOC129995601 (A94V)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3	GUncertain significance
Select item 2807449	NM_001453.3(FOXC1):c.1492C>T (p.Pro498Ser)	FOXC1 (P498S)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3	GUncertain significance
Select item 2804834	NM_001453.3(FOXC1):c.1181A>G (p.His394Arg)	FOXC1 (H394R)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3	GUncertain significance
Select item 2804282	NM_001453.3(FOXC1):c.39G>A (p.Leu13=)	FOXC1	Single nucleotide variant (synonymous variant)	Axenfeld-Rieger syndrome type 3	GUncertain significance
Select item 2802857	NM_001453.3(FOXC1):c.34T>A (p.Ser12Thr)	FOXC1 (S12T)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3	GUncertain significance
Select item 2790535	NM_001453.3(FOXC1):c.1290C>T (p.Asp430=)	FOXC1	Single nucleotide variant (synonymous variant)	Axenfeld-Rieger syndrome type 3	GUncertain significance
Select item 2785908	NM_001453.3(FOXC1):c.1078C>T (p.Leu360Phe)	FOXC1 (L360F)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3	GUncertain significance
Select item 2782170	NM_001453.3(FOXC1):c.1038C>T (p.Pro346=)	FOXC1	Single nucleotide variant (synonymous variant)	Axenfeld-Rieger syndrome type 3	GLikely benign
Select item 2776108	NM_001453.3(FOXC1):c.192C>T (p.Tyr64=)	FOXC1	Single nucleotide variant (synonymous variant)	Axenfeld-Rieger syndrome type 3	GLikely benign
Select item 2771857	NM_001453.3(FOXC1):c.652C>T (p.Pro218Ser)	FOXC1 (P218S)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3	GUncertain significance
Select item 2768561	NM_001453.3(FOXC1):c.325A>G (p.Met109Val)	FOXC1, LOC129995601 (M109V)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3	GUncertain significance
Select item 2761437	NM_001453.3(FOXC1):c.1483G>A (p.Ala495Thr)	FOXC1 (A495T)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3	GUncertain significance
Select item 2760761	NM_001453.3(FOXC1):c.730G>A (p.Ala244Thr)	FOXC1 (A244T)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3	GUncertain significance
Select item 2756233	NM_001453.3(FOXC1):c.796dup (p.Ser266fs)	FOXC1 (S266fs)	Duplication (frameshift variant)	Axenfeld-Rieger syndrome type 3	GPathogenic
Select item 2755662	NM_001453.3(FOXC1):c.104del (p.Gly35fs)	FOXC1 (G35fs)	Deletion (frameshift variant)	Axenfeld-Rieger syndrome type 3	GPathogenic
Select item 2737948	NM_001453.3(FOXC1):c.403T>A (p.Cys135Ser)	FOXC1 (C135S)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3	GUncertain significance
Select item 2734820	NM_001453.3(FOXC1):c.493G>C (p.Gly165Arg)	FOXC1 (G165R)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3	GUncertain significance
Select item 2731505	NM_001453.3(FOXC1):c.453C>T (p.Tyr151=)	FOXC1	Single nucleotide variant (synonymous variant)	Axenfeld-Rieger syndrome type 3	GLikely benign
Select item 2730690	NM_001453.3(FOXC1):c.936C>T (p.Asn312=)	FOXC1	Single nucleotide variant (synonymous variant)	Axenfeld-Rieger syndrome type 3	GLikely benign
Select item 2727823	NM_001453.3(FOXC1):c.182C>T (p.Ala61Val)	FOXC1 (A61V)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3 +1 more	GConflicting classifications of pathogenicity

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